Clear cell sarcoma of the small bowel: a potential pitfall

Venkataraman, Girish; Quinn, Adam M.; Williams, J.; Hammadeh, Rasheed

doi:10.1111/j.1600-0463.2005.apm_243.x

Cited by 39 publications

(27 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Of 25 cases in the literature that involved assessment for the presence of at least one neuroendocrine marker (including chromogranin-A, synaptophysin, neuron-specific enolase, and CD56) immunohistochemically, 19 (76%) were shown to express at least one of these markers. 1,2,6,[8][9][10]13 In the series by Stockman et al, 13 all cases expressed SOX10 (further supporting evidence of a primitive neural phenotype for CCSLGT) and vimentin. Markers associated with gastrointestinal stromal tumor (GIST)-CD117, DOG1, CD34-are universally negative, and CCSLGT is also negative for desmin, smooth muscle actin, pancytokeratin AE1/AE3 (although 1 of 8 cases has shown focal patchy positivity for Cam5.2), and CD99.…”

Section: Ancillary Studies Immunohistochemistry and Electron Microscopymentioning

confidence: 85%

“…S100 protein positivity has been seen in all 38 CCSLGTs where it was performed, whereas the melanocyte-specific markers were negative in all CCSLGTs studied. 1,2,[5][6][7][8][9][10][11][12][13][14] This is in contrast to conventional-type CCSs occurring in the gastrointestinal tract, most of which are positive for S100 protein as well as melanocyte-specific antigens. There is now increasing evidence that many CCSLGTs also express neuroendocrine markers ( Figure 9).…”

Section: Ancillary Studies Immunohistochemistry and Electron Microscopymentioning

confidence: 99%

See 1 more Smart Citation

Clear Cell Sarcoma–like Tumor of the Gastrointestinal Tract: An Evolving Entity

Wang

Thway

2015

Archives of Pathology &Amp; Laboratory Medicine

View full text Add to dashboard Cite

Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is a rare malignant neoplasm that occurs in the wall of the small bowel, stomach, or large bowel, predominantly in young adults. It is an aggressive neoplasm that frequently presents with metastatic disease and has a high mortality rate. Histologically, it is usually composed of medium-sized primitive ovoid or epithelioid cells with pale or clear cytoplasm that are arranged in sheets or in papillary or alveolar architectures. Clear cell sarcoma-like tumor of the gastrointestinal tract is positive for S100 protein, invariably negative for melanocytespecific markers and is often also positive for neuroendocrine markers. The etiology of CCSLGT is unknown, but many studies have shown associations with EWSR1-CREB1 gene fusions and, less frequently, with EWSR1-ATF1 fusions. Here, we discuss the current status of CCSLGT, including histologic, immunophenotypic, and molecular findings.

show abstract

Section: Ancillary Studies Immunohistochemistry and Electron Microscopymentioning

confidence: 85%

Section: Ancillary Studies Immunohistochemistry and Electron Microscopymentioning

confidence: 99%

Clear Cell Sarcoma–like Tumor of the Gastrointestinal Tract: An Evolving Entity

Wang

Thway

2015

Archives of Pathology &Amp; Laboratory Medicine

View full text Add to dashboard Cite

show abstract

“…[1][2][3] Interestingly, clear cell sarcomas of the gastrointestinal origin can be negative for specific melanocytic markers. 5,6,[8][9][10] In addition, 50% of traditional extremity clear cell sarcomas can harbor pigment. 3 This can sometimes make the distinction between clear cell sarcoma and melanoma difficult, especially in situations in which there is no clear in situ component identified or in metastatic melanomas of unknown primary.…”

mentioning

confidence: 99%

“…[1][2][3] Occasionally, primary clear cell sarcoma can arise in visceral organs including the gastrointestinal tract. 1,[4][5][6][7][8][9][10] It is one of the few sarcomas with a high propensity for lymph node metastases with frequencies of up to 50% reported. [1][2][3] Histologically, clear cell sarcoma is characterized by polygonal to spindled cells arranged in nests and fascicles with clear to eosinophillic granular cytoplasm and prominent nucleoli.…”

mentioning

confidence: 99%

Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts)

et al. 2009

View full text Add to dashboard Cite

Unlike melanoma, clear cell sarcoma harbors either a t(12;22)(q13;q12) recurrent translocation, resulting in an EWSR1/ATF1 chimeric gene, or less commonly a t(2;22)(q34;q12) translocation fusing EWSR1 and CREB1. Few studies have examined the prevalence of all chimeric types and variants to assess the usage of ancillary genetic testing in routine diagnosis. We investigated rearrangement prevalence in 17 clear cell sarcomas, two positive control cell lines, and two melanomas (negative controls). Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed. All 15 cases available for testing by FISH were positive for EWSR1 rearrangement including two cases with insufficient RNA for RT-PCR. Thirteen of 15 cases successfully tested by RT-PCR harbored a type 1 chimeric transcript (EWSR1 exon 8/ATF1 exon 4), of which five tumors simultaneously carried a type 2 chimeric transcript (EWSR1 exon 7/ATF1 exon 5). One case carried a type 2 transcript alone and one case contained an EWSR1/CREB1 transcript. Both control cases were positive by both techniques with one case carrying both types 1 and 2 chimeric transcripts and the other types 2 and 3 (EWSR1 exon 10/ATF1 exon 5). Consequently, both techniques are equally effective in assessing for an EWSR1 rearrangement and are useful ancillary diagnostic tests for clear cell sarcoma. They also reinforce the prevalence of this translocation in these tumors. In addition, EWSR1-CREB1 was identified in a clear cell sarcoma of soft tissue providing further evidence that this chimeric variant is not exclusive to gastrointestinal clear cell sarcomas and should be included in RT-PCR assays of soft tissue clear cell sarcomas.

show abstract

“…They tend to metastasise to the liver as well as to regional lymph nodes. 11 The most common site for CCSLGTs is the small intestine, with the stomach and the colon more rarely affected. 6 …”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal clear cell sarcoma-like tumour of the ascending colon

ArdakaniA

BoyleDJ

EltonC

2016

annals

View full text Add to dashboard Cite

INTRODUCTION A clear cell sarcoma-like gastrointestinal tumour (CCSLGT) is a rare malignant soft tissue sarcoma. In the literature, they are sometimes referred to as malignant gastrointestinal neuroectodermal tumours, clear cell sarcomas or osteoclast rich tumours of the gastrointestinal tract. CASE HISTORY We present a case of a CCSLGT arising from the ascending colon of a previously well 22-year-old man presenting with abdominal pain and anaemia. Computed tomography of the abdomen and pelvis showed a 7cm irregular mass in the right flank that seemed to emerge from the proximal transverse colon. A laparoscopic right hemicolectomy was undertaken to remove the mass. Microscopic pathological examination of the specimen revealed sections of spindle to oval cells with monomorphic nuclei and scant cytoplasm. The cells were arranged in a striking perivascular growth pattern with microcytic breakdown and pseudopapillary formation. Immunohistochemistry analysis showed that the tumour cells removed expressed S100 protein, and were negative for smooth muscle actin, desmin, CD34, CD117, DOG1, HMB-45 and MNF116. Additionally, cytogenetic testing identified EWSR1 gene rearrangement, which was observed by interphase fluorescence in situ hybridisation. CONCLUSIONS A complex tumour, a CCSLGT can be thought of in simple terms as a gastrointestinal tract tumour that is S100 protein positive, osteoclast rich, HMB-45 negative and compromises a t(12;22)(q13;q12) gene translocation. These simplified CCSLGT characteristics seem to be described and classified under different aliases in the literature, which makes it difficult to accurately predict the appropriate diagnostic and therapeutic modality required to provide the best clinical care. Given that this case report describes the fourth CCSLGT of primary colonic origins, it may aid future targeted therapies as well as offering epidemiological evidence on prevalence and prognosis. KEYWORDSClear cell sarcoma -Colon -Malignant gastrointestinal neuroectodermal tumour -Gastrointestinal stromal tumour -S100 -Clear cell sarcoma-like tumour of the gastrointestinal tract -Osteoclast rich -EWSR1

show abstract

Clear cell sarcoma of the small bowel: a potential pitfall

Cited by 39 publications

References 7 publications

Clear Cell Sarcoma–like Tumor of the Gastrointestinal Tract: An Evolving Entity

Clear Cell Sarcoma–like Tumor of the Gastrointestinal Tract: An Evolving Entity

Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts)

Gastrointestinal clear cell sarcoma-like tumour of the ascending colon

Contact Info

Product

Resources

About